{"created":"2023-05-15T09:02:54.657318+00:00","id":3794,"links":{},"metadata":{"_buckets":{"deposit":"a965847b-4137-4cf6-accf-c06bd6cb6880"},"_deposit":{"created_by":3,"id":"3794","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"3794"},"status":"published"},"_oai":{"id":"oai:hirosaki.repo.nii.ac.jp:00003794","sets":["557:561:655"]},"author_link":["12894","12881","11672","14081","12887","14080","11524","14089","11915","11163","11531","14083","11517","12882","11155","11153","11161","11147"],"item_3_alternative_title_21":{"attribute_name":"その他のタイトル","attribute_value_mlt":[{"subitem_alternative_title":"Functional Analysis of LEMD3 Mutation in Buschke-Ollendorff Syndrome"}]},"item_3_alternative_title_22":{"attribute_name":"タイトル(ヨミ)","attribute_value_mlt":[{"subitem_alternative_title":"Buschke-Ollendorff ショウコウグン ニオケル LEMD3 イデンシ ヘンイ ト ソノ キノウ カイセキ"}]},"item_3_biblio_info_8":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2014-04-15","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageEnd":"26","bibliographicPageStart":"21","bibliographicVolumeNumber":"65","bibliographic_titles":[{"bibliographic_title":"弘前医学"}]}]},"item_3_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Buschke-Ollendorff 症候群(以下BOS)はLEMD3 遺伝子の変異により発症する常染色体優性遺伝性疾患である.皮膚におけるⅠ型コラーゲンの過剰蓄積による結合織母斑が主たる病変であるが,その発症機序は不明である.今回我々は,実際の患者で同定された遺伝子変異によって生じた変異型リコンビナントLEMD3 タンパク質が,TGF-β で刺激されたⅠ型コラーゲン遺伝子の発現上昇にどう影響するかをレポーターアッセイにより調べるとともに,変異型LEMD3タンパク質の細胞内局在についても検討した.野生型LEMD3 はTGF-β によるⅠ型コラーゲン遺伝子のプロモーター活性の上昇を抑制したが,変異型LEMD3 は抑制できなかった.また,野生型と変異型LEMD3はいずれも培養細胞内で核膜に局在していた.BOS の皮膚病変はTGF-β 刺激によるコラーゲンの過剰産生を変異型LEMD3 が抑制できないことによって生じると考えられた.変異型LEMD3 は核膜においてその病的役割を発揮することが示唆された.","subitem_description_type":"Abstract"}]},"item_3_description_7":{"attribute_name":"引用","attribute_value_mlt":[{"subitem_description":"弘前医学. 65, 2014, p.21-26","subitem_description_type":"Other"}]},"item_3_full_name_2":{"attribute_name":"著者(ヨミ)","attribute_value_mlt":[{"nameIdentifiers":[{"nameIdentifier":"14083","nameIdentifierScheme":"WEKO"}],"names":[{"name":"キンジョウ, チヒロ"}]},{"nameIdentifiers":[{"nameIdentifier":"11163","nameIdentifierScheme":"WEKO"}],"names":[{"name":"ナカノ, ハジメ"}]},{"nameIdentifiers":[{"nameIdentifier":"12882","nameIdentifierScheme":"WEKO"}],"names":[{"name":"コレカワ, アユミ"}]},{"nameIdentifiers":[{"nameIdentifier":"12887","nameIdentifierScheme":"WEKO"}],"names":[{"name":"トヨマキ, ユカ"}]},{"nameIdentifiers":[{"nameIdentifier":"11161","nameIdentifierScheme":"WEKO"}],"names":[{"name":"マツザキ, ヤスシ"}]},{"nameIdentifiers":[{"nameIdentifier":"11524","nameIdentifierScheme":"WEKO"}],"names":[{"name":"サワムラ, 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